| Abdominal aortic aneurysm |
5.0 |
| Abnormality of the cardiovascular system |
25.0 |
| Abnormal aortic morphology |
10.0 |
| Phenotypic abnormality |
100.0 |
| Abnormality of the vasculature |
20.0 |
| All |
100.0 |
| Abnormal systemic arterial morphology |
10.0 |
| Abnormal cardiovascular system morphology |
25.0 |
| Vascular dilatation |
5.0 |
| Abnormal morphology of the great vessels |
20.0 |
| Abnormal vascular morphology |
20.0 |
| Abnormal blood vessel morphology |
20.0 |
| Aortic aneurysm |
5.0 |
| Cryptorchidism |
20.0 |
| Hydroureter |
5.0 |
| Hydronephrosis |
10.0 |
| Xerostomia |
5.0 |
| Pectus excavatum |
5.0 |
| Pectus carinatum |
10.0 |
| Congenital hip dislocation |
5.0 |
| Oligohydramnios |
5.0 |
| Patent ductus arteriosus |
5.0 |
| Talipes equinovarus |
10.0 |
| Anal atresia |
5.0 |
| Prune belly |
5.0 |
| Aplasia of the abdominal wall musculature |
5.0 |
| Congenital posterior urethral valve |
5.0 |
| Slow pupillary light response |
5.0 |
| Abnormal ureter morphology |
5.0 |
| Talipes |
10.0 |
| Abnormality of the skeletal system |
55.00000000000001 |
| Abnormality of the anus |
10.0 |
| Abnormality of limbs |
60.0 |
| Abnormality of the abdominal wall |
5.0 |
| Abnormality of the lower limb |
45.0 |
| Joint dislocation |
10.0 |
| Abnormality of the eye |
45.0 |
| Abnormal thorax morphology |
15.0 |
| Abnormality of prenatal development or birth |
15.0 |
| Abnormality of the digestive system |
15.0 |
| Abnormal testis morphology |
20.0 |
| Abnormality of the musculature |
15.0 |
| Abnormality of the ureter |
5.0 |
| Abnormal pelvic girdle bone morphology |
15.0 |
| Abnormal eye physiology |
40.0 |
| Abnormal foot morphology |
40.0 |
| Abnormal hip bone morphology |
5.0 |
| Abnormality of lower limb joint |
10.0 |
| Dilatation of the renal pelvis |
10.0 |
| Lower extremity joint dislocation |
5.0 |
| Abnormal appendicular skeleton morphology |
50.0 |
| Abnormal digestive system morphology |
10.0 |
| Abnormal anus morphology |
10.0 |
| Abnormal external genitalia |
20.0 |
| Abnormal joint morphology |
30.0 |
| Abnormal axial skeleton morphology |
55.00000000000001 |
| Hip dysplasia |
5.0 |
| Abnormal skeletal muscle morphology |
5.0 |
| Abnormality of the urethra |
10.0 |
| Abnormality of the genitourinary system |
25.0 |
| Abnormality of salivation |
5.0 |
| Congenital malformation of the great arteries |
10.0 |
| Abnormal sternum morphology |
10.0 |
| Abnormal male external genitalia morphology |
20.0 |
| Abnormal reproductive system morphology |
25.0 |
| Abnormality of the upper urinary tract |
15.0 |
| Abnormality of the musculoskeletal system |
55.00000000000001 |
| Abnormality of the male genitalia |
20.0 |
| Abnormality of the amniotic fluid |
15.0 |
| Abnormality of the urinary system |
20.0 |
| Urethral valve |
5.0 |
| Abnormality of the face |
55.00000000000001 |
| Hip dislocation |
5.0 |
| Positional foot deformity |
10.0 |
| Aplasia/Hypoplasia of the abdominal wall musculature |
5.0 |
| Abnormal pupillary function |
5.0 |
| Abnormal skeletal morphology |
55.00000000000001 |
| Abnormal hip joint morphology |
5.0 |
| Abnormality of the genital system |
25.0 |
| Abnormal pupillary light reflex |
5.0 |
| Urethral obstruction |
5.0 |
| Abnormal renal morphology |
15.0 |
| Abnormal oral physiology |
5.0 |
| Abnormality of the kidney |
15.0 |
| Abnormal morphology of the abdominal musculature |
5.0 |
| Abnormality of the lower urinary tract |
10.0 |
| Abnormality of the head |
60.0 |
| Abnormality of the mouth |
40.0 |
| Urethrovesical occlusion |
5.0 |
| Abnormality of head or neck |
60.0 |
| Abnormal renal pelvis morphology |
10.0 |
| Strabismus |
30.0 |
| Abducens palsy |
5.0 |
| Abnormal cranial nerve physiology |
5.0 |
| Abnormality of the nervous system |
50.0 |
| Abnormal nervous system physiology |
45.0 |
| Cranial nerve paralysis |
5.0 |
| Abnormality of eye movement |
30.0 |
| Abnormal conjugate eye movement |
30.0 |
| Cleft palate |
20.0 |
| Cleft upper lip |
5.0 |
| Microcephaly |
10.0 |
| Esotropia |
5.0 |
| Microphthalmia |
5.0 |
| Hypertension |
5.0 |
| Cutis marmorata |
5.0 |
| Brachydactyly |
25.0 |
| Intellectual disability |
30.0 |
| Seizure |
10.0 |
| Global developmental delay |
10.0 |
| Generalized hypotonia |
5.0 |
| Pachygyria |
5.0 |
| Calvarial skull defect |
5.0 |
| Alopecia |
5.0 |
| Ventricular septal defect |
10.0 |
| Atrial septal defect |
5.0 |
| Tetralogy of Fallot |
5.0 |
| Pulmonic stenosis |
5.0 |
| Bicuspid aortic valve |
5.0 |
| Aortic valve stenosis |
5.0 |
| Toe syndactyly |
20.0 |
| Small nail |
5.0 |
| Hypoplasia of the corpus callosum |
10.0 |
| Encephalocele |
5.0 |
| Pulmonary arterial hypertension |
5.0 |
| Ventriculomegaly |
10.0 |
| Polymicrogyria |
5.0 |
| Cortical dysplasia |
5.0 |
| Supernumerary nipple |
5.0 |
| Hypoplastic left heart |
5.0 |
| Pulmonary artery stenosis |
5.0 |
| Periventricular leukomalacia |
5.0 |
| Aplasia cutis congenita on trunk or limbs |
5.0 |
| Aplasia cutis congenita over posterior parietal area |
5.0 |
| Imperforate hymen |
5.0 |
| Short digit |
30.0 |
| Vascular skin abnormality |
5.0 |
| Abnormal heart valve morphology |
5.0 |
| Abnormality of the female genitalia |
10.0 |
| Abnormality of the integument |
65.0 |
| Neurodevelopmental delay |
15.0 |
| Abnormal breast morphology |
15.0 |
| Abnormal upper lip morphology |
15.0 |
| Abnormal forebrain morphology |
20.0 |
| Heterotropia |
5.0 |
| Abnormal toe morphology |
25.0 |
| Abnormality of globe size |
10.0 |
| Abnormal lung morphology |
10.0 |
| Aplasia/Hypoplasia of the skin |
5.0 |
| Abnormality of the pulmonary artery |
5.0 |
| Abnormal cardiac ventricle morphology |
10.0 |
| Abnormal muscle tone |
10.0 |
| Abnormality of the pulmonary vasculature |
5.0 |
| Esodeviation |
5.0 |
| Abnormal nipple morphology |
10.0 |
| Pre-capillary pulmonary hypertension |
5.0 |
| Abnormal ventricular septum morphology |
10.0 |
| Neural tube defect |
10.0 |
| Abnormal cardiac atrium morphology |
5.0 |
| Abnormal digit morphology |
45.0 |
| Abnormal cerebral white matter morphology |
15.0 |
| Orofacial cleft |
20.0 |
| Abnormal cerebral cortex morphology |
10.0 |
| Abnormal cerebral subcortex morphology |
15.0 |
| Aplasia cutis congenita of scalp |
5.0 |
| Aplasia/Hypoplasia affecting the eye |
5.0 |
| Hypoplastic heart |
5.0 |
| Aplasia cutis congenita over parietal area |
5.0 |
| Lissencephaly |
5.0 |
| Abnormal lip morphology |
15.0 |
| Morphological central nervous system abnormality |
35.0 |
| Abnormal eye morphology |
30.0 |
| Abnormality of the skin |
55.00000000000001 |
| Abnormality of the breast |
15.0 |
| Abnormal nervous system morphology |
35.0 |
| Abnormality of mental function |
35.0 |
| Abnormal hair morphology |
25.0 |
| Abnormal cerebral ventricle morphology |
25.0 |
| Abnormality of limb bone |
45.0 |
| Abnormal pulmonary artery morphology |
5.0 |
| Thin corpus callosum |
15.0 |
| Abnormal vagina morphology |
10.0 |
| Abnormal skull morphology |
50.0 |
| Abnormal morphology of female internal genitalia |
10.0 |
| Abnormal atrial septum morphology |
5.0 |
| Cephalocele |
5.0 |
| Abnormal respiratory system physiology |
20.0 |
| Leukoencephalopathy |
5.0 |
| Abnormal aortic valve cusp morphology |
5.0 |
| Open neural tube defect |
5.0 |
| Abnormal calvaria morphology |
40.0 |
| Abnormality of pulmonary circulation |
5.0 |
| Abnormal pulmonary valve physiology |
5.0 |
| Abnormal cerebral morphology |
20.0 |
| Abnormal brain morphology |
30.0 |
| Abnormal oral morphology |
35.0 |
| Abnormal palate morphology |
25.0 |
| Abnormal cardiac septum morphology |
10.0 |
| Abnormal skin adnexa morphology |
30.0 |
| Abnormal neural tube morphology |
10.0 |
| Aplasia cutis congenita |
5.0 |
| Abnormal skin morphology |
50.0 |
| Abnormality of skull size |
15.0 |
| Abnormal corpus callosum morphology |
15.0 |
| Aplasia/Hypoplasia involving the central nervous system |
15.0 |
| Decreased head circumference |
10.0 |
| Hypotonia |
10.0 |
| Syndactyly |
20.0 |
| Abnormal muscle physiology |
10.0 |
| Abnormal ventriculoarterial connection |
5.0 |
| Congenital malformation of the left heart |
5.0 |
| Abnormal respiratory system morphology |
20.0 |
| Cleft lip |
5.0 |
| Increased blood pressure |
5.0 |
| Conotruncal defect |
5.0 |
| Craniofacial cleft |
20.0 |
| Abnormal limb bone morphology |
45.0 |
| Abnormal heart morphology |
15.0 |
| Abnormal aortic valve morphology |
5.0 |
| Abnormality of the nail |
10.0 |
| Abnormal connection of the cardiac segments |
5.0 |
| Abnormal oral cavity morphology |
35.0 |
| Abnormal hair quantity |
10.0 |
| Aplasia/Hypoplasia of the nails |
5.0 |
| Neurodevelopmental abnormality |
35.0 |
| Abnormal internal genitalia |
10.0 |
| Aplasia/Hypoplasia of the corpus callosum |
15.0 |
| Localized skin lesion |
35.0 |
| Abnormal vascular physiology |
5.0 |
| Abnormal cardiovascular system physiology |
5.0 |
| Aplasia/Hypoplasia of the cerebrum |
15.0 |
| Abnormal systemic blood pressure |
5.0 |
| Generalized abnormality of skin |
5.0 |
| Abnormality of neuronal migration |
5.0 |
| Elevated pulmonary artery pressure |
5.0 |
| Abnormal heart valve physiology |
5.0 |
| Abnormality of the respiratory system |
20.0 |
| Abnormal periventricular white matter morphology |
5.0 |
| Abnormal aortic valve physiology |
5.0 |
| Abnormal cortical gyration |
5.0 |
| Acanthosis nigricans |
5.0 |
| Thickened skin |
15.0 |
| Epidermal thickening |
15.0 |
| Brachycephaly |
25.0 |
| Micrognathia |
15.0 |
| Arachnodactyly |
5.0 |
| Joint hypermobility |
15.0 |
| Broad skull |
5.0 |
| Aplasia/hypoplasia involving the skeleton |
40.0 |
| Abnormal finger morphology |
35.0 |
| Slender finger |
5.0 |
| Abnormality of the upper limb |
50.0 |
| Aplasia/hypoplasia affecting bones of the axial skeleton |
25.0 |
| Abnormal facial skeleton morphology |
45.0 |
| Aplasia/Hypoplasia of the mandible |
15.0 |
| Abnormality of the hand |
50.0 |
| Abnormality of joint mobility |
30.0 |
| Abnormal jaw morphology |
40.0 |
| Abnormal joint physiology |
30.0 |
| Long fingers |
10.0 |
| Abnormal mandible morphology |
35.0 |
| Aplasia/Hypoplasia involving bones of the skull |
15.0 |
| Abnormal musculoskeletal physiology |
35.0 |
| Hydrocephalus |
20.0 |
| Macrocephaly |
5.0 |
| Malar flattening |
20.0 |
| Recurrent otitis media |
5.0 |
| Conductive hearing impairment |
5.0 |
| Choanal stenosis |
15.0 |
| Short ribs |
5.0 |
| Motor delay |
5.0 |
| Megalencephaly |
10.0 |
| Limited elbow extension |
5.0 |
| Polyhydramnios |
10.0 |
| Premature rupture of membranes |
5.0 |
| Frontal bossing |
10.0 |
| Pulmonary hypoplasia |
5.0 |
| Respiratory distress |
5.0 |
| Brain stem compression |
5.0 |
| Small foramen magnum |
5.0 |
| Generalized joint hypermobility |
5.0 |
| Upper airway obstruction |
5.0 |
| Lumbar hyperlordosis |
5.0 |
| Genu varum |
5.0 |
| Femoral bowing |
5.0 |
| Radial bowing |
5.0 |
| Flared metaphysis |
5.0 |
| Ulnar bowing |
5.0 |
| Limited hip extension |
5.0 |
| Short femur |
5.0 |
| Narrow greater sciatic notch |
5.0 |
| Trident hand |
5.0 |
| Severe platyspondyly |
5.0 |
| Thoracic hypoplasia |
5.0 |
| Depressed nasal bridge |
20.0 |
| Spinal stenosis with reduced interpedicular distance |
5.0 |
| Lumbar kyphosis in infancy |
5.0 |
| Narrow vertebral interpedicular distance |
10.0 |
| Rhizomelia |
10.0 |
| Neonatal short-limb short stature |
5.0 |
| Infantile muscular hypotonia |
5.0 |
| Midface retrusion |
15.0 |
| Feeding difficulties |
5.0 |
| Short femoral neck |
5.0 |
| Abnormal cerebrospinal fluid morphology |
20.0 |
| Abnormal nasal bridge morphology |
20.0 |
| Limitation of joint mobility |
15.0 |
| Abdominal symptom |
5.0 |
| Limited hip movement |
5.0 |
| Otitis media |
10.0 |
| Abnormal middle ear morphology |
10.0 |
| Abnormal inflammatory response |
10.0 |
| Abnormal ear morphology |
20.0 |
| Abnormality of upper limb joint |
25.0 |
| Abnormal zygomatic bone morphology |
20.0 |
| Abnormal midface morphology |
25.0 |
| Abnormal shape of the radius |
5.0 |
| Bowed forearm bones |
5.0 |
| Abnormal upper limb bone morphology |
30.0 |
| Short stature |
25.0 |
| Abnormal knee morphology |
5.0 |
| Abnormality of body height |
30.0 |
| Abnormal delivery |
5.0 |
| Aplasia/Hypoplasia of the lungs |
5.0 |
| Disproportionate short stature |
15.0 |
| Abnormality of the nose |
35.0 |
| Abnormal ear physiology |
25.0 |
| Unusual infection |
5.0 |
| Vertebral arch anomaly |
10.0 |
| Airway obstruction |
5.0 |
| Growth delay |
25.0 |
| Abnormality of the calf |
5.0 |
| Abnormal vertebral morphology |
15.0 |
| Aplasia/Hypoplasia involving bones of the thorax |
5.0 |
| Bowing of the arm |
5.0 |
| Abnormality of digestive system physiology |
5.0 |
| Aplasia/hypoplasia of the extremities |
35.0 |
| Abnormality of the middle ear |
10.0 |
| Functional abnormality of the middle ear |
5.0 |
| Abnormal frontal bone morphology |
10.0 |
| Abnormal greater sciatic notch morphology |
5.0 |
| Abnormal brainstem morphology |
5.0 |
| Abnormal femur morphology |
5.0 |
| Aplasia/Hypoplasia of the ribs |
5.0 |
| Abnormal shape of the frontal region |
10.0 |
| Abnormality of the knee |
5.0 |
| Limb undergrowth |
10.0 |
| Abnormal forearm morphology |
25.0 |
| Abnormal metaphysis morphology |
5.0 |
| Abnormal femoral neck/head morphology |
5.0 |
| Abnormal curvature of the vertebral column |
10.0 |
| Abnormal morphology of ulna |
10.0 |
| Increased inflammatory response |
10.0 |
| Short long bone |
15.0 |
| Bowing of the long bones |
5.0 |
| Abnormal choanae morphology |
15.0 |
| Dyspnea |
5.0 |
| Abnormal forearm bone morphology |
25.0 |
| Disproportionate short-limb short stature |
15.0 |
| Metaphyseal widening |
5.0 |
| Abnormal femoral neck morphology |
5.0 |
| Hyperlordosis |
5.0 |
| Abnormality of the forehead |
25.0 |
| Abnormal nasal morphology |
35.0 |
| Abnormality of the vertebral column |
15.0 |
| Hearing impairment |
25.0 |
| Increased head circumference |
5.0 |
| Abnormality of the ear |
25.0 |
| Recurrent infections |
5.0 |
| Aplasia/Hypoplasia involving the femoral head and neck |
5.0 |
| Abnormal foramen magnum morphology |
5.0 |
| Abnormal form of the vertebral bodies |
10.0 |
| Abnormal lumbar spine morphology |
5.0 |
| Lumbar kyphosis |
5.0 |
| Abnormal lung development |
5.0 |
| Abnormal pattern of respiration |
5.0 |
| Abnormality of the immune system |
15.0 |
| Abnormal rib cage morphology |
5.0 |
| Abnormality of the elbow |
20.0 |
| Abnormal long bone morphology |
30.0 |
| Platyspondyly |
5.0 |
| Abnormal lower limb bone morphology |
20.0 |
| Spinal canal stenosis |
10.0 |
| Aplasia/hypoplasia involving bones of the extremities |
30.0 |
| Abnormal rib morphology |
5.0 |
| Abnormal diaphysis morphology |
5.0 |
| Abnormal morphology of the radius |
25.0 |
| Hearing abnormality |
25.0 |
| Limited elbow movement |
10.0 |
| Abnormality of immune system physiology |
15.0 |
| Aplasia/Hypoplasia involving the pelvis |
5.0 |
| Bowing of the legs |
5.0 |
| Growth abnormality |
35.0 |
| Aplasia/hypoplasia involving bones of the lower limbs |
20.0 |
| Aplasia/hypoplasia of the femur |
5.0 |
| Paroxysmal sneezing |
5.0 |
| Sneeze |
5.0 |
| Constitutional symptom |
5.0 |
| Tinnitus |
5.0 |
| Visual loss |
5.0 |
| Diplopia |
5.0 |
| Personality changes |
5.0 |
| Cafe-au-lait spot |
5.0 |
| Axillary freckling |
5.0 |
| Neurofibroma |
5.0 |
| Ataxia |
5.0 |
| Headache |
5.0 |
| Vertigo |
5.0 |
| Ependymoma |
5.0 |
| Juvenile posterior subcapsular lenticular opacities |
5.0 |
| Bilateral vestibular schwannoma |
5.0 |
| Unilateral vestibular schwannoma |
5.0 |
| Astrocytoma |
5.0 |
| Peripheral schwannoma |
5.0 |
| Retinal hamartoma |
5.0 |
| Lisch nodules |
5.0 |
| Peripheral neuropathy |
5.0 |
| Inguinal freckling |
5.0 |
| Epiretinal membrane |
5.0 |
| Cortical cataract |
5.0 |
| Optic nerve sheath meningioma |
5.0 |
| Macular thickening |
5.0 |
| Abnormal cranial nerve morphology |
5.0 |
| Abnormal fundus morphology |
10.0 |
| Vestibular schwannoma |
5.0 |
| Malignant neoplasm of the central nervous system |
5.0 |
| Atypical behavior |
5.0 |
| Abnormal vestibular function |
5.0 |
| Hamartoma |
5.0 |
| Abnormal peripheral nervous system morphology |
5.0 |
| Abnormality of vision |
5.0 |
| Macule |
5.0 |
| Sarcoma |
5.0 |
| Soft tissue sarcoma |
5.0 |
| Meningioma |
5.0 |
| Abnormality of skin pigmentation |
15.0 |
| Abnormality of coordination |
5.0 |
| Impairment in personality functioning |
5.0 |
| Neuroepithelial neoplasm |
5.0 |
| Cataract |
5.0 |
| Neoplasm of the central nervous system |
5.0 |
| Abnormal uvea morphology |
10.0 |
| Hyperpigmentation of the skin |
5.0 |
| Hamartoma of the orbital region |
5.0 |
| Neoplasm of the inner ear |
5.0 |
| Fibroma |
5.0 |
| Glioma |
5.0 |
| Iris nodule |
5.0 |
| Freckling |
5.0 |
| Neoplasm |
10.0 |
| Neoplasm of the nervous system |
5.0 |
| Irregular hyperpigmentation |
5.0 |
| Abnormal lens morphology |
5.0 |
| Abnormality of the orbital region |
35.0 |
| Benign neoplasm of the central nervous system |
5.0 |
| Visual impairment |
5.0 |
| Abnormal central motor function |
5.0 |
| Hypermelanotic macule |
5.0 |
| Functional abnormality of the inner ear |
5.0 |
| Hamartoma of the eye |
5.0 |
| Neoplasm of the eye |
5.0 |
| Neoplasm by anatomical site |
10.0 |
| Posterior subcapsular cataract |
5.0 |
| Abnormality iris morphology |
10.0 |
| Schwannoma |
5.0 |
| Abnormality of binocular vision |
5.0 |
| Neoplasm of the ear |
5.0 |
| Neuroectodermal neoplasm |
5.0 |
| Nervous tissue neoplasm |
5.0 |
| Abnormal astrocyte morphology |
5.0 |
| Neoplasm of the skin |
5.0 |
| Abnormal glial cell morphology |
5.0 |
| Abnormal anterior eye segment morphology |
15.0 |
| Zonular cataract |
5.0 |
| Subcapsular cataract |
5.0 |
| Abnormal meningeal morphology |
10.0 |
| Neoplasm by histology |
5.0 |
| Abnormality of the vestibulocochlear nerve |
5.0 |
| Abnormal retinal morphology |
5.0 |
| Fibrous tissue neoplasm |
5.0 |
| Abnormal posterior eye segment morphology |
10.0 |
| Neoplasm of the peripheral nervous system |
5.0 |
| Abnormal macular morphology |
5.0 |
| Abnormality of the inner ear |
5.0 |
| Vaginal atresia |
5.0 |
| Narrow palate |
10.0 |
| Bifid uvula |
5.0 |
| High palate |
10.0 |
| Thin upper lip vermilion |
5.0 |
| Large fontanelles |
5.0 |
| Brachyturricephaly |
10.0 |
| Delayed cranial suture closure |
10.0 |
| Mandibular prognathia |
20.0 |
| Hypertelorism |
20.0 |
| Broad forehead |
5.0 |
| High forehead |
10.0 |
| Posteriorly rotated ears |
5.0 |
| Low-set ears |
10.0 |
| Chronic otitis media |
5.0 |
| Choanal atresia |
10.0 |
| Anteverted nares |
10.0 |
| Downslanted palpebral fissures |
15.0 |
| Myopia |
5.0 |
| Shallow orbits |
15.0 |
| Delayed eruption of teeth |
10.0 |
| Dental malocclusion |
10.0 |
| Hyperhidrosis |
5.0 |
| Acne |
5.0 |
| Postaxial hand polydactyly |
5.0 |
| Preaxial hand polydactyly |
5.0 |
| Agenesis of corpus callosum |
5.0 |
| Cerebellar hypoplasia |
10.0 |
| Absent septum pellucidum |
5.0 |
| Pyloric stenosis |
5.0 |
| Esophageal atresia |
5.0 |
| Overriding aorta |
5.0 |
| Delayed epiphyseal ossification |
5.0 |
| Humeroradial synostosis |
10.0 |
| Ectopic anus |
5.0 |
| Coronal craniosynostosis |
15.0 |
| Sagittal craniosynostosis |
5.0 |
| Lambdoidal craniosynostosis |
10.0 |
| Anomalous tracheal cartilage |
5.0 |
| Acrobrachycephaly |
5.0 |
| Cervical C5/C6 vertebrae fusion |
5.0 |
| Rhizomelic arm shortening |
5.0 |
| Synostosis of carpal bones |
5.0 |
| Wide intermamillary distance |
5.0 |
| Chiari type I malformation |
5.0 |
| Posterior fossa cyst |
5.0 |
| Abnormal morphology of the limbic system |
5.0 |
| Broad distal hallux |
5.0 |
| Broad distal phalanx of the thumb |
5.0 |
| Cutaneous finger syndactyly |
5.0 |
| Cutaneous syndactyly of toes |
10.0 |
| Prominent forehead |
5.0 |
| Flat face |
10.0 |
| Arachnoid cyst |
5.0 |
| Abnormality of the palpebral fissures |
20.0 |
| Abnormal bone structure |
15.0 |
| Abnormal ocular adnexa morphology |
30.0 |
| Broad thumb |
10.0 |
| Genital tract atresia |
5.0 |
| Abnormality of the wrist |
5.0 |
| Abnormal morphology of bony orbit of skull |
15.0 |
| Abnormality of the dentition |
20.0 |
| Gastrointestinal atresia |
5.0 |
| Abnormal tracheobronchial morphology |
10.0 |
| Abnormality of the humerus |
10.0 |
| Vertebral fusion |
5.0 |
| Abnormality of thumb phalanx |
10.0 |
| Abnormal posterior cranial fossa morphology |
10.0 |
| Abnormal bone ossification |
10.0 |
| Abnormality of the ocular adnexa |
30.0 |
| Synostosis involving bones of the hand |
5.0 |
| Abnormal skull base morphology |
10.0 |
| Synostosis of carpals/tarsals |
5.0 |
| Broad phalanges of the hand |
10.0 |
| Abnormal finger phalanx morphology |
20.0 |
| Postaxial polydactyly |
5.0 |
| Abnormal morphology of the nasal alae |
15.0 |
| Abnormal tracheal morphology |
10.0 |
| Abnormality of the outer ear |
10.0 |
| Tooth malposition |
15.0 |
| Abnormality of the gastrointestinal tract |
5.0 |
| Broad long bones |
10.0 |
| Abnormal epiphysis morphology |
10.0 |
| Broad hallux |
10.0 |
| Broad distal phalanx of finger |
5.0 |
| Inflammatory abnormality of the skin |
5.0 |
| Abnormal location of ears |
10.0 |
| Abnormal enchondral ossification |
10.0 |
| Fused cervical vertebrae |
5.0 |
| Polydactyly |
10.0 |
| Cerebellar malformation |
10.0 |
| Abnormality of upper lip vermillion |
5.0 |
| Proptosis |
15.0 |
| Broad toe |
10.0 |
| Finger syndactyly |
10.0 |
| Abnormal hallux morphology |
20.0 |
| Chiari malformation |
10.0 |
| Abnormal carpal morphology |
5.0 |
| Abnormal esophagus morphology |
5.0 |
| Abnormality of the distal phalanx of the thumb |
5.0 |
| Abnormality of the humeroradial joint |
15.0 |
| Duplication of phalanx of hand |
10.0 |
| Preaxial polydactyly |
5.0 |
| Abnormality of globe location |
20.0 |
| Abnormal eyelid morphology |
25.0 |
| Duplication of bones involving the upper extremities |
10.0 |
| Abnormal external nose morphology |
20.0 |
| Abnormal stomach morphology |
5.0 |
| Abnormal thumb morphology |
10.0 |
| Abnormality of the chin |
25.0 |
| Hand polydactyly |
10.0 |
| Abnormal arachnoid mater morphology |
5.0 |
| Thin vermilion border |
5.0 |
| Abnormality of skin adnexa physiology |
5.0 |
| Abnormal nostril morphology |
10.0 |
| Abnormal uvula morphology |
5.0 |
| Vertebral segmentation defect |
5.0 |
| Abnormality of skin physiology |
5.0 |
| Abnormality of the pylorus |
5.0 |
| Aplasia/Hypoplasia of the cerebellum |
10.0 |
| Abnormal metencephalon morphology |
15.0 |
| Abnormal 5th finger morphology |
10.0 |
| Duplication of hand bones |
10.0 |
| Carpal synostosis |
5.0 |
| Abnormality of dental eruption |
10.0 |
| Synostosis involving bones of the upper limbs |
15.0 |
| Broad finger |
10.0 |
| Abnormality of the upper arm |
10.0 |
| Central nervous system cyst |
5.0 |
| Abnormality of fontanelles |
5.0 |
| Intracranial cystic lesion |
5.0 |
| Abnormal pinna morphology |
10.0 |
| Slanting of the palpebral fissure |
15.0 |
| Abnormal hand morphology |
35.0 |
| Abnormal soft palate morphology |
5.0 |
| Broad phalanx |
10.0 |
| Abnormality of the fontanelles or cranial sutures |
15.0 |
| Abnormal distal phalanx morphology of finger |
10.0 |
| Abnormal hindbrain morphology |
15.0 |
| Abnormal gastrointestinal tract morphology |
5.0 |
| Synostosis of joints |
15.0 |
| Abnormal epiphyseal ossification |
10.0 |
| Cutaneous syndactyly |
10.0 |
| Abnormality of refraction |
5.0 |
| Craniosynostosis |
15.0 |
| Abnormal intermamillary distance |
5.0 |
| Abnormality of cranial sutures |
15.0 |
| Turricephaly |
15.0 |
| Synostosis involving the elbow |
10.0 |
| Hypohidrosis or hyperhidrosis |
5.0 |
| Abnormal facial shape |
10.0 |
| Abnormal cerebellum morphology |
15.0 |
| Abnormal septum pellucidum morphology |
5.0 |
| Oxycephaly |
5.0 |
| Low anterior hairline |
5.0 |
| Facial asymmetry |
5.0 |
| Hypoplasia of the maxilla |
15.0 |
| Convex nasal ridge |
5.0 |
| Narrow nose |
5.0 |
| Ptosis |
5.0 |
| Buphthalmos |
5.0 |
| Abnormal nasolacrimal system morphology |
5.0 |
| Plagiocephaly |
5.0 |
| Hallux valgus |
5.0 |
| Intellectual disability, moderate |
5.0 |
| Skull asymmetry |
5.0 |
| Parietal foramina |
5.0 |
| Radioulnar synostosis |
5.0 |
| Breast carcinoma |
5.0 |
| Long nose |
5.0 |
| Clinodactyly of the 5th finger |
5.0 |
| Flat forehead |
5.0 |
| Microtia |
5.0 |
| Prominent crus of helix |
5.0 |
| Partial duplication of the distal phalanx of the 2nd finger |
5.0 |
| Partial duplication of the distal phalanx of the 3rd finger |
5.0 |
| Absent first metatarsal |
5.0 |
| Cleft of chin |
5.0 |
| Abnormality of the frontal hairline |
10.0 |
| Abnormal nasal dorsum morphology |
5.0 |
| Deviation of the 5th finger |
5.0 |
| Aplasia/Hypoplasia involving bones of the feet |
15.0 |
| Abnormality of the scalp hair |
10.0 |
| Partial duplication of the phalanges of the 3rd finger |
5.0 |
| Deviation of toes |
5.0 |
| Developmental glaucoma |
5.0 |
| Aplasia/Hypoplasia of the ear |
5.0 |
| Duplication of phalanx of 3rd finger |
5.0 |
| Abnormal scalp morphology |
15.0 |
| Ocular anterior segment dysgenesis |
5.0 |
| Duplication of the distal phalanx of the 3rd finger |
5.0 |
| Abnormality of the distal phalanx of the 3rd finger |
5.0 |
| Mesoaxial polydactyly |
5.0 |
| Abnormal hair pattern |
10.0 |
| Deviation of the hand or of fingers of the hand |
5.0 |
| Abnormality of the phalanges of the 2nd finger |
5.0 |
| Partial duplication of the phalanx of hand |
5.0 |
| Clinodactyly |
5.0 |
| Abnormal 3rd finger phalanx morphology |
5.0 |
| Abnormality of the distal phalanx of the 2nd finger |
5.0 |
| Absent metatarsal bone |
5.0 |
| Abnormal maxilla morphology |
15.0 |
| Finger clinodactyly |
5.0 |
| Abnormal parietal bone morphology |
5.0 |
| Abnormal cartilage morphology |
5.0 |
| Duplication of phalanx of 2nd finger |
5.0 |
| Abnormal metatarsal morphology |
10.0 |
| Neoplasm of the breast |
5.0 |
| Abnormality of the first metatarsal bone |
5.0 |
| Abnormally large globe |
5.0 |
| Abnormal helix morphology |
5.0 |
| Duplication of the distal phalanx of the 2nd finger |
5.0 |
| Mesoaxial hand polydactyly |
5.0 |
| Partial duplication of the phalanges of the 2nd finger |
5.0 |
| Abnormal 3rd finger morphology |
5.0 |
| Glaucoma |
5.0 |
| Abnormality of the crus of the helix |
5.0 |
| Deviation of finger |
5.0 |
| Abnormal 2nd finger morphology |
5.0 |
| Duplication of the distal phalanx of hand |
5.0 |
| Aplasia/hypoplasia of the 1st metatarsal |
5.0 |
| Deviation of the hallux |
5.0 |
| Aplasia/Hypoplasia of the external ear |
5.0 |
| Abnormality of cartilage of external ear |
5.0 |
| Aplasia/Hypoplasia of metatarsal bones |
10.0 |
| Abnormality of the hairline |
10.0 |
| Polydactyly affecting the 3rd finger |
5.0 |
| Polydactyly affecting the 2nd finger |
5.0 |
| Partial duplication of the distal phalanges of the hand |
5.0 |
| Congenital abnormal hair pattern |
10.0 |
| Dental crowding |
5.0 |
| Cloverleaf skull |
5.0 |
| Bronchomalacia |
5.0 |
| Elbow ankylosis |
5.0 |
| Short nose |
5.0 |
| Short middle phalanx of toe |
5.0 |
| Tracheal cartilaginous sleeve |
5.0 |
| Shortening of all middle phalanges of the fingers |
5.0 |
| 3-4 toe cutaneous syndactyly |
5.0 |
| Aplasia/Hypoplasia of the middle phalanges of the hand |
5.0 |
| Abnormal toe phalanx morphology |
5.0 |
| Aplasia/Hypoplasia of toe |
5.0 |
| Aplasia/Hypoplasia of fingers |
5.0 |
| Aplasia/Hypoplasia of the phalanges of the hand |
10.0 |
| Aplasia/hypoplasia involving bones of the hand |
20.0 |
| Short middle phalanx of finger |
5.0 |
| Aplasia/hypoplasia involving bones of the upper limbs |
20.0 |
| Abnormal bronchus morphology |
5.0 |
| Abnormality of the middle phalanges of the toes |
5.0 |
| Short toe |
5.0 |
| Ankylosis |
5.0 |
| Short finger |
5.0 |
| Abnormal middle phalanx morphology of the hand |
5.0 |
| Short phalanx of finger |
10.0 |
| Unilateral renal agenesis |
5.0 |
| Hypogonadism |
5.0 |
| Epicanthus |
5.0 |
| Broad nasal tip |
5.0 |
| Blue irides |
5.0 |
| Optic atrophy |
5.0 |
| Hypodontia |
5.0 |
| Congenital hypothyroidism |
5.0 |
| Irregular menstruation |
5.0 |
| Melanocytic nevus |
5.0 |
| Broad palm |
5.0 |
| Intrauterine growth retardation |
10.0 |
| Small for gestational age |
5.0 |
| Mild postnatal growth retardation |
5.0 |
| Long hallux |
5.0 |
| Scoliosis |
5.0 |
| Hyperphosphatemia |
5.0 |
| Elevated circulating thyroid-stimulating hormone concentration |
5.0 |
| Dislocated radial head |
5.0 |
| Elevated circulating parathyroid hormone level |
5.0 |
| Elevated circulating calcitonin concentration |
5.0 |
| Short palm |
10.0 |
| Calvarial hyperostosis |
5.0 |
| Accelerated skeletal maturation |
5.0 |
| Neonatal epiphyseal stippling |
5.0 |
| Hypoplastic vertebral bodies |
5.0 |
| Short metacarpal |
10.0 |
| Cone-shaped epiphyses of the phalanges of the hand |
5.0 |
| Short metatarsal |
5.0 |
| Mild global developmental delay |
5.0 |
| Decreased growth hormone responses to growth hormone-releasing hormone challenge |
5.0 |
| Abnormality of the anterior pituitary |
5.0 |
| Renal agenesis |
5.0 |
| Abnormality of the radial head |
5.0 |
| Abnormality of reproductive system physiology |
5.0 |
| Abnormal blood phosphate concentration |
5.0 |
| Abnormality of body weight |
10.0 |
| Decreased body weight |
5.0 |
| Hypothyroidism |
5.0 |
| Abnormal nasal tip morphology |
10.0 |
| Postnatal growth retardation |
5.0 |
| Abnormal number of teeth |
5.0 |
| Abnormal metacarpal morphology |
10.0 |
| Abnormality of thyroid physiology |
5.0 |
| Abnormality of the thyroid gland |
5.0 |
| Abnormal hand epiphysis morphology |
5.0 |
| Decreased response to growth hormone stimulation test |
5.0 |
| Acute phase response |
5.0 |
| Abnormal epiphysis morphology of the phalanges of the hand |
5.0 |
| Puberty and gonadal disorders |
5.0 |
| Abnormal circulating metabolite concentration |
5.0 |
| Abnormal upper limb epiphysis morphology |
5.0 |
| Abnormal pituitary gland morphology |
5.0 |
| Abnormal palm morphology |
15.0 |
| Abnormal iris pigmentation |
5.0 |
| Aplasia/Hypoplasia involving the vertebral column |
5.0 |
| Renal hypoplasia/aplasia |
5.0 |
| Phalangeal cone-shaped epiphyses |
5.0 |
| Anterior hypopituitarism |
5.0 |
| Nevus |
5.0 |
| Abnormal female reproductive system physiology |
5.0 |
| Tooth agenesis |
5.0 |
| Abnormal circulating hormone concentration |
5.0 |
| Upper extremity joint dislocation |
5.0 |
| Abnormal thyroid-stimulating hormone level |
5.0 |
| Abnormal blood ion concentration |
5.0 |
| Abnormality of the hypothalamus-pituitary axis |
5.0 |
| Cranial hyperostosis |
5.0 |
| Aplasia/Hypoplasia of the vertebrae |
5.0 |
| Abnormality of the endocrine system |
5.0 |
| Abnormal response to endocrine stimulation test |
5.0 |
| Hypopituitarism |
5.0 |
| Epiphyseal stippling |
5.0 |
| Aplasia/Hypoplasia involving the metacarpal bones |
10.0 |
| Long toe |
5.0 |
| Elbow dislocation |
5.0 |
| Abnormal circulating calcium-phosphate regulating hormone concentration |
5.0 |
| Abnormal circulating calcitonin concentration |
5.0 |
| Vertebral hypoplasia |
5.0 |
| Abnormality of skeletal maturation |
5.0 |
| Abnormal endocrine physiology |
5.0 |
| Abnormality of metabolism/homeostasis |
5.0 |
| Abnormal optic nerve morphology |
5.0 |
| Abnormal optic disc morphology |
5.0 |
| Cone-shaped epiphysis |
5.0 |
| Hyperostosis |
5.0 |
| Abnormal limb epiphysis morphology |
5.0 |
| Ectopic calcification |
5.0 |
| Abnormality of the menstrual cycle |
5.0 |
| Hypospadias |
5.0 |
| Widow's peak |
5.0 |
| Prominent nose |
5.0 |
| Webbed neck |
5.0 |
| Carious teeth |
5.0 |
| Single transverse palmar crease |
5.0 |
| Cerebellar vermis hypoplasia |
5.0 |
| Cerebral cortical atrophy |
5.0 |
| Enlarged cisterna magna |
5.0 |
| Spina bifida occulta |
5.0 |
| Preauricular pit |
5.0 |
| Mandibulofacial dysostosis |
5.0 |
| Abnormal dermatoglyphics |
5.0 |
| Displacement of the urethral meatus |
5.0 |
| Abnormal spinal cord morphology |
5.0 |
| Spinal dysraphism |
5.0 |
| Abnormal palmar dermatoglyphics |
5.0 |
| Atrophy/Degeneration affecting the central nervous system |
5.0 |
| Abnormal male urethral meatus morphology |
5.0 |
| Regional abnormality of skin |
15.0 |
| Brain atrophy |
5.0 |
| Abnormal penis morphology |
5.0 |
| Abnormal skin morphology of the palm |
10.0 |
| Abnormal periauricular region morphology |
5.0 |
| Spina bifida |
5.0 |
| High anterior hairline |
5.0 |
| Aplasia/Hypoplasia of the cerebellar vermis |
5.0 |
| Abnormal cerebellar vermis morphology |
5.0 |
| Abnormal neck morphology |
5.0 |
| Atrophy/Degeneration affecting the cerebrum |
5.0 |
| Abnormality of the palmar creases |
5.0 |
| Craniofacial dysostosis |
5.0 |
| Skin pit |
5.0 |
| Cerebral atrophy |
5.0 |
| Enlarged posterior fossa |
5.0 |
| Abnormality of dental structure |
5.0 |
| Periauricular skin pits |
5.0 |
| Abnormality of the neck |
5.0 |
| Abnormal cheek morphology |
5.0 |
| Fine hair |
5.0 |
| Allergy |
5.0 |
| Papule |
10.0 |
| Skin plaque |
5.0 |
| Immunologic hypersensitivity |
5.0 |
| Abnormality of hair texture |
5.0 |
| Hyperkeratosis |
10.0 |
| Acrokeratosis |
10.0 |
| Skin nodule |
10.0 |
| Ridged nail |
5.0 |
| Punctate palmoplantar hyperkeratosis |
5.0 |
| Verrucous papule |
5.0 |
| Epidermal acanthosis |
5.0 |
| Acantholysis |
5.0 |
| Abnormality of the plantar skin of foot |
5.0 |
| Plantar hyperkeratosis |
5.0 |
| Palmar hyperkeratosis |
5.0 |
| Nail dysplasia |
5.0 |
| Abnormal epidermal morphology |
5.0 |
| Palmoplantar hyperkeratosis |
5.0 |
| Symmetric great toe depigmentation |
5.0 |
| Tall stature |
5.0 |
| Soft skin |
5.0 |
| Large hands |
10.0 |
| Long foot |
5.0 |
| Cutis gyrata of scalp |
5.0 |
| Periostosis |
5.0 |
| Abnormal elasticity of skin |
5.0 |
| Abnormal periosteum morphology |
5.0 |
| Sloping forehead |
5.0 |
| Bulbous nose |
5.0 |
| Telecanthus |
5.0 |
| Blepharophimosis |
5.0 |
| Synophrys |
5.0 |
| Tapered finger |
5.0 |
| Specific learning disability |
5.0 |
| Large for gestational age |
5.0 |
| Deep philtrum |
5.0 |
| Highly arched eyebrow |
5.0 |
| Thickened calvaria |
5.0 |
| Thick nasal alae |
5.0 |
| Short 5th metacarpal |
5.0 |
| Thick vermilion border |
5.0 |
| Abnormality of the philtrum |
5.0 |
| Abnormal eyebrow morphology |
5.0 |
| Hypertrichosis |
5.0 |
| Increased body weight |
5.0 |
| Aplasia/Hypoplasia of the 5th metacarpal |
5.0 |
| Abnormal 5th metacarpal morphology |
5.0 |
| Facial hypertrichosis |
5.0 |
| Abnormal size of the palpebral fissures |
5.0 |
